本文選題：感音神經性耳聾 + 內耳崎形��； 參考：《中國人民解放軍軍醫(yī)進修學院》2011年博士論文

【摘要】：目的 研究感音神經性耳聾病例的流行病學資料,通過高分辨率螺旋CT檢查探討中國人感音神經性耳聾患者群體中內耳畸形的發(fā)病率情況；在Sennaroglu分類的基礎上分析各類內耳畸形的影像學特征,從形態(tài)學、組織胚胎學及聽力學方面探討內耳畸形分類的依據；研究感音神經性耳聾中CT表型與SLC26A4、GJB2基因致病性突變類型之間的關系,初步探討SLC26A4、GJB2基因檢測在部分感音神經性耳聾患者中輔助或替代CT成為診斷工具的可行性。 方法 在第一部分中,對我院門診近10年來2747例感音神經性耳聾病例進行回顧性分析,采用流行病學方法對感音神經性耳聾病例的一般情況、聽力學情況進行調查,通過對大宗病例CT資料的研究,了解中國人感音神經性耳聾患者群體中內耳畸形的發(fā)病情況。以Sennaroglu分類為標準,對以上病例中通過CT檢查發(fā)現存在內耳畸形的843例患者,按以下部位進行詳細觀察：耳蝸、前庭、半規(guī)管、前庭導水管及內聽道；對其中的441例耳蝸畸形按以下分類：Michel畸形、耳蝸未發(fā)育、共同腔畸形、耳蝸發(fā)育不全、不完全分隔-Ⅰ型、不完全分隔-Ⅱ型(Mondini畸形)進行研究,在大宗病例中統(tǒng)計各類畸形的詳細情況,同時結合影像學及聽力學方法對上述分類結果進行分析。在第二部分中,對2598例感音神經性耳聾患者按DNA測序的方法檢測SLC26A4基因和GJB2基因,統(tǒng)計這兩種基因在以上各類CT表型中對應的致病性突變情況,研究SLC26A4、GJB2基因致病性突變在以上各類CT表型中的分布特點,分析SLC26A4、GJB2基因型與CT表型之間的關系。 結果 1、通過CT檢查在2747例感音神經性耳聾患者中發(fā)現843例內耳畸形病例,內耳畸形的發(fā)病率為30.69%(843/2747) 2、843例內耳畸形患者的調查分析結果： (1)一般情況：性別比例男女之比為1.33：1；種族分布漢族為96.68%(815/843),然后依次為滿族、蒙古族、回族以及其他族；發(fā)病年齡平均2.89±0.92,1～3歲比例最高為34.68%(292/843)；單、雙側均可發(fā)病,其中雙側占93.36%(787/843)；存在家族史的占2.37%(20/843)。 (2)聽力學情況：平均聽閾為89.71±6.30dB HL,以重度、極重度聾為主,占84.25%；聲導抗A型為主,占74.43%。 3、按照Sennaroglu分類方法,843例內耳畸形的CT檢查詳細結果： (1)各部位畸形構成情況：耳蝸畸形為52.31%(441/843)、單純大前庭導水管為40.33%(340/843)、單純前庭/半規(guī)管/內聽道畸形為7.36%(62/843)。 (2)內耳畸形中441例耳蝸畸形分類情況：Michel畸形為1.13%(5/441)、耳蝸未發(fā)育為1.81%(8/441)、共同腔畸形為3.17%(14/441)、IP-Ⅰ畸形為8.62%(38/441)、耳蝸發(fā)育不全為9.07%(40/441)、Mondini畸形(伴大前庭導水管)為76.19%(336/441)。 (3)CT檢查出與大前庭導水管相關畸形(單純大前庭導水管340例、大前庭導水管伴Mondini畸形336例)676例,占全部內耳畸形的比例為80.19%(676/843)；嚴重內耳畸形(Michel畸形、耳蝸未發(fā)育、共同腔畸形、IP-Ⅰ畸形、耳蝸發(fā)育不全)105例,占全部畸形的比例為12.46%(105/843)。 (4)與前庭導水管擴大相關內耳畸形在感音神經性耳聾患者中的發(fā)病率為24.61%(676/2747)；嚴重內耳畸形在感音神經性耳聾中的發(fā)病率為3.82%(105/2747)。 4、2598例感音神經耳聾病例中SLC26A4、GJB2基因突變檢測結果： (1)共檢出SLC26A4基因致病性突變(雙等位基因突變)517例,全部在前庭導水管擴大相關內耳畸形中檢出。共檢出GJB2基因致病性突變(雙等位基因突變)414例,其中在CT正常組中檢出411例,占全部檢出例數的99.28%(411/414)；在單純前庭/半規(guī)管/內聽道畸形中檢出2例；在單純大前庭導水管中檢出1例(SLC26A4、GJB2基因雙突變) (2)517例SLC26A4基因致病性突變中,雙等位基因純合突變164例、復合雜合突變353例。 (3)414例GJB2基因致病性突變中,雙等位基因純合突變213例、復合雜合突變199例、單等位基因顯性突變(R184Q)2例。 5、感音神經性耳聾中內耳CT表型與SLC26A4、GJB2基因突變之間的關系： (1)CT表型為嚴重內耳畸形的病例中均未檢測出SLC26A4、GJB2基因致病性突變(雙等位基因突變) (2)SLC26A4基因致病性突變(雙等位基因突變)全部在CT表型為前庭導水管擴大相關內耳畸形病例中檢出。 (3)GJB2基因致病性突變(雙等位基因突變)99.28%在內耳CT表型為正常的耳聾病例中檢出。 結論 通過CT檢查發(fā)現感音神經性耳聾患者群體中內耳畸形發(fā)病率為30.69%,內耳畸形中與前庭導水管擴大相關內耳畸形的病例占80.19%。通過DNA測序發(fā)現,SLC26A4基因致病性突變(雙等位基因突變)100%在前庭導水管擴大相關內耳畸形的病例中檢出,GJB2基因致病性突變(雙等位基因突變)99.28%在內耳CT正常的耳聾病例中檢出,二者與CT表型密切相關；SLC26A4、GJB2基因聯合檢測,有望在部分感音神經性耳聾患者中輔助甚至替代CT成為診斷工具。
[Abstract]:objective
The epidemiological data of sensorineural deafness were studied and the incidence of internal ear malformation in Chinese people with sensorineural deafness was examined by high resolution spiral CT. The imaging features of various internal ear deformities were analyzed on the basis of Sennaroglu classification, and the study of morphology, histology, embryology and audiology were discussed. The basis of the classification of the malformation of the inner ear; the relationship between the CT phenotype and the pathogenicity of the GJB2 gene in sensorineural deafness, and the feasibility of the SLC26A4, GJB2 gene detection in partially sensorineural deafness to assist or replace CT as a diagnostic tool.
Method
In the first part, a retrospective analysis of 2747 cases of sensorineural deafness in our hospital over the past 10 years was conducted. The general situation and audiology of sensorineural deafness cases were investigated by epidemiological methods. Through the study of the CT data of large cases, the internal ear distortion in Chinese people with sensorineural deafness was understood. 843 cases of internal ear malformation were found in the above cases by Sennaroglu classification. The following sites were observed in detail: cochlea, vestibule, semicircular canal, vestibular aqueduct and internal auditory canal; 441 Cases of cochlear malformation were classified as follows: Michel malformation, cochlear undeveloped, common cavity malformation. Shape, cochlear dysplasia, incomplete separation - type I, incomplete separation - type II (Mondini malformation), and the detailed analysis of various deformities in a large number of cases, and the analysis of the above classification results combined with imaging and audiology methods. In the second part, 2598 cases of sensorineural deafness were sequenced by DNA sequencing. The SLC26A4 gene and GJB2 gene were detected, and the corresponding pathogenic mutation of these two genes in all kinds of CT phenotypes was analyzed. The distribution characteristics of SLC26A4, GJB2 gene mutations in all kinds of CT phenotypes were studied, and the relationship between the SLC26A4, GJB2 genotypes and CT phenotypes was analyzed.
Result
1, 843 cases of inner ear malformation were found in 2747 patients with sensorineural hearing loss by CT examination. The incidence of inner ear malformation was 30.69% (843/2747).
2843 cases of internal ear malformation were investigated and analyzed.
(1) the general situation: the ratio of gender to male and female is 1.33:1; the ethnic Han nationality is 96.68% (815/843), and then in turn is Manchu, Mongolian, Hui and other ethnic groups; the average age of age 2.89 + 0.92,1 to 3 years is 34.68% (292/843). 7% (20/843).
(2) audiology: the average hearing threshold was 89.71 + 6.30dB HL, which was mainly severe, very severe deafness, accounting for 84.25%, and acoustic impedance A was the main type, accounting for 74.43%.
3, according to the Sennaroglu classification method, 843 cases of inner ear malformation were examined by CT in detail.
(1) the malformation of each part: the cochlear malformation was 52.31% (441/843), the simple large vestibular aqueduct was 40.33% (340/843), and the vestibule / semicircular canal / inner auditory malformation was 7.36% (62/843).
(2) the classification of 441 Cases of cochlear malformation in the inner ear malformation: Michel malformation was 1.13% (5/441), cochlea was 1.81% (8/441), cochlear malformation was 3.17% (14/441), IP- I malformation was 8.62% (38/441), cochlear development was 9.07% (40/441), Mondini malformation (vestibular aqueduct) was 76.19% (336/441).
(3) CT detected 676 cases of large vestibular aqueduct associated malformation (340 cases of large vestibular aqueduct and 336 cases of large vestibular aqueduct accompanied by Mondini malformation), which accounted for 80.19% (676/843) of all inner ear malformations, and 105 cases of severe inner ear malformation (Michel malformation, cochlear undeveloped, common cavity malformation, IP- I malformation and cochlear dysplasia), accounting for all malformations. The proportion was 12.46% (105/843).
(4) the incidence of internal ear malformation associated with vestibular aqueduct in sensorineural deafness was 24.61% (676/2747), and the incidence of severe inner ear deformities in sensorineural deafness was 3.82% (105/2747).
Detection of SLC26A4 and GJB2 gene mutations in 42598 cases of sensorineural hearing loss:
(1) a total of 517 cases of SLC26A4 gene mutation (double allele mutation) were detected, all of which were detected in the vestibular aqueduct related inner ear malformation. A total of 414 cases of GJB2 gene mutation (double allele mutation) were detected, of which 411 cases were detected in the normal CT group, accounting for 99.28% (411/414) of the total number of cases, and in the simple vestibule / semicircular canal / within. 2 cases were found in the auditory canal deformity, and 1 cases (SLC26A4, GJB2 gene double mutation) were found in the large vestibular aqueduct.
(2) in 517 cases of SLC26A4 gene mutation, 164 cases of homozygous alleles and 353 cases of compound heterozygous mutations.
(3) in 414 cases of GJB2 gene mutation, 213 alleles of homozygous alleles, 199 cases of compound heterozygous mutations, and 2 cases of single allele dominant mutation (R184Q).
5, the relationship between the CT phenotype of inner ear and the mutation of SLC26A4 and GJB2 gene in sensorineural hearing loss:
(1) SLC26A4 and GJB2 gene mutations (double alleles mutation) were not detected in CT phenotype with severe inner ear malformations.
(2) the SLC26A4 gene mutation (double allele mutation) was detected in the CT phenotype with enlarged vestibular aqueduct associated inner ear malformations.
(3) the GJB2 gene mutation (double allele mutation) 99.28% was detected in the inner ear CT phenotype in normal deafness cases.
conclusion
The incidence of inner ear malformation in the group of sensorineural deafness was 30.69% through CT examination, and the cases of inner ear malformation associated with the enlarged vestibular aqueduct associated inner ear malformation were found to be 80.19%. through DNA sequencing, and the pathogenicity of the SLC26A4 gene (double allele mutation) 100% was detected in the cases of the enlargement of the vestibular aqueduct related internal ear malformation. The GJB2 gene pathogenicity mutation (double allele mutation) 99.28% was detected in the CT normal deafness cases in the inner ear, and the two was closely related to the CT phenotype; SLC26A4, GJB2 gene combined detection, could be used to assist and even replace CT in some sensorineural deafness patients.
【學位授予單位】：中國人民解放軍軍醫(yī)進修學院
【學位級別】：博士
【學位授予年份】：2011
【分類號】：R764.43

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